One night in October 2000, Nick and his wife Sonya made an alarming discovery in their son’s nappy. Urine from their two-week-old son Julien had suddenly turned dark red, almost black.
A home visit from a doctor assured the couple that it wasn’t blood and suggested that the pigment likely came from some red cabbage that Sonya had eaten for lunch that had made its way into her breast milk and was colouring the boy’s urine. He told them it was nothing to worry about.
The doctors explanation and instructions “not to worry” didn’t feel right to Nick, so he and his wife sought a second opinion and were referred to a specialist at a London hospital.
It turned out the unusual pee colour was not caused by red cabbage. Tests revealed that Julien had a rare genetic disease called alkaptonuria (AKU). The staining came from a rogue chemical metabolite, a by-product of not being able to fully process certain proteins. Julien’s body was dumping massive amounts of the substance into his urine, which turned red when exposed to air.
The ultra-rare genetic condition is also known as “black bone disease” because it causes bones to turn black and their surface to corrode.
At the time of his sons’ diagnoses, there was no treatment available, so, Nick quit his job to find a cure.
He joined the AKU Society and helped grow it into a charity that now supports patients around the globe and now serves as their Interim CEO and Chairman. The charity is currently awaiting the results of a major clinical trial this coming September.
Later in his journey, Nick began to be contacted by other patients and parents wanting to repeat his achievements in their own rare conditions. He realised there was a huge demand for a new organisation to share advice and knowledge between patient groups, saving each the time, resources, and stress of having to reinvent the wheel.
He teamed up with Tony, an expert in orphan drug development who had seen first-hand the financial and logistical challenges that pharmaceutical companies face when developing treatments for small patient populations. He realised the need for a non-profit approach to improve patient health while not breaking the NHS bank. Together they set up Findacure in 2012.
In large part, thanks to his father, Julien Sireau — now 19 — received his first dose of nitisinone in August 2018.
An observational study at the NHS-funded Robert Gregory National Alkaptonuria Centre (NAC), based at the Royal Liverpool University Hospital, in collaboration with the University of Liverpool and Cambridge charity the AKU Society found that the drug stops the progress of AKU.Tags: patient advocacy, rare diseases